A press release about the finding states, "The gene, called CDH2, causes...(ARVC), which is a genetic disorder that predisposes patients to cardiac arrest and is a major cause of unexpected death in seemingly healthy young people."
The discovery came through the genetic analysis of a South African family plagued by a string of losses.
After ruling out a number of causes, researchers, "...sequenced all the coding regions of the genome in two ill members of the family. The genetic mutation responsible for the disease in the family, CDH2, was narrowed down from more than 13,000 common genetic variants present in the two ill patients."
The team notes, "...if a subject with ARVC is a carrier of a mutation on the gene CDH2, other members of his family who are genetically affected can be identified within a few weeks and preventive strategies could be started immediately. This may lead to a reduction of cases of sudden death in patients with the mutation..."
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